AQP4 SNPs in patients with idiopathic and familial Parkinson’s disease
Research type
Research Study
Full title
The effect of aquaporin-4 (AQP4) single nucleotide polymorphisms on clinical phenotype in patients with idiopathic and familial Parkinson’s Disease
IRAS ID
244212
Contact name
Oliver Howes
Contact email
Sponsor organisation
King's College London
Clinicaltrials.gov Identifier
18/LO/1149, 18/LO/1149
Duration of Study in the UK
5 years, 6 months, 1 days
Research summary
A newly-characterized system, called glymphatic system, has been found to be important in the removal of waste products in the brain. This system has been postulated to be active only during the sleep and is mainly regulated by a brain substance called Aquaporin-4 (AQP4). Studies in animal models have shown that a failure of AQP4 is associated with the accumulation of toxic proteins, such as amyloid-beta and alpha-synuclein, which eventually leads to the development of neurodegenerative diseases (i.e. Alzheimer’s Disease and Parkinson’s disease). Studies in humans have shown that an alteration in some part of the AQP4 gene, defined as single nucleotide polymorphisms (SNPs), may increase the likelihood to develop an aggressive form of Alzheimer’s Disease. However, no studies in humans have been performed in Parkinson’s disease.
In this study, we aim to evaluate the alterations in AQP4 gene SNPs and other related genes in a population of patients with sporadic and familial Parkinson’s disease. These analyses will be performed on a small amount (20 mL) of blood sample. We will check whether these alterations are associated with poor sleep and worse clinical symptoms in these patients. The sleep will be evaluated with a wearable portable device called Actigraph.REC name
London - Riverside Research Ethics Committee
REC reference
18/LO/1149
Date of REC Opinion
9 Jul 2018
REC opinion
Unfavourable Opinion